Joe Marsh

Happy to see this out, check out our paper here: nature.com/articles/s4146…

Out today in PLOS Comp Biol: journals.plos.org/ploscompbiol/a… Intrinsically disordered regions make variant prediction deceptively easy for benign changes but very hard for pathogenic ones. Our work shows why current tools struggle here, and why disorder-aware approaches are needed.

Genetic variants🧬 can cause protein-coding mutations resulting in disease. What about in alternative isoforms? Excited to share my 1st first-author pre-print! Here we show many variants reside in tissue-specific isoforms, causing coding mutations. A🧵 1/ biorxiv.org/content/10.110…

New paper out in Genome Biology! 🎉 We lay out best-practice guidelines for releasing variant effect predictors, developed through the Atlas of Variant Effects Alliance @varianteffects Open, interpretable, and clinically useful VEPs are the goal. 📄 doi.org/10.1186/s13059…

New review out with @L_Geras @teichlab ! 🧬🔬 We explore how protein structure is improving variant effect prediction. Advances in structural modelling, including AlphaFold, are powering methods like AlphaMissense, PrimateAI-3D, and CPT-1, leading to better accuracy and interpretability. Read more: sciencedirect.com/science/articl…

We are hiring a new postdoctoral bioinformatician! Come and work with us on multidisciplinary cancer genomics projects at the Institute of Genetics and Cancer in Edinburgh: elxw.fa.em3.oraclecloud.com/hcmUI/Candidat… institute-genetics-cancer.ed.ac.uk semplelab.com

Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown. @jmarshlab @BdonyiMihly

Are you interested in AI and structural biology, genetics and the non-coding (aka “dark”) genome? A PhD studentship through the UKRI AI and biomedical innovation programme at @EdinburghUni @EdinUni_IGC has become available with myself and prof @jmarshlab

and thanks to @ListerInstitute whose support allowed me to recruit Diego!

Excited to share our new paper led by PhD student Diego Chillón Pino with @BdonyiMihly and @DrColinSemple

Very happy to see this work is now published and we hope our model will be useful for people

Excited to share the pre-print of the first story of my PhD project, investigating the function of peptidyl arginine deiminase 6 (PADI6), with @lwalport at @TheCrick. biorxiv.org/content/10.110…

@DFlemmingHansen @NatureComms @gogulan_k @bhu_vaibhav @UCLLifeSciences @TheCrick very cool!

Happy to share our DNNs to transform crowded methyl HSQC spectra of large proteins into spectra akin to Methyl-TROSY is out in @NatureComms Scripts & weights available on GitHub / Zenodo. #NMRChat @gogulan_k @bhu_vaibhav @UCLLifeSciences @TheCrick rdcu.be/dKJGq